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Latest Genetic disorder Stories

Therapeutic Option For Women With Mutant Mitochondrial DNA
2012-12-20 07:08:59

Connie K. Ho for redOrbit.com — Your Universe Online Researchers from the Columbia University Medical Center (CUMC) and the New York Stem Cell Foundation (NYSCF) have been able to create a new technique that limits inherited disorders in children. The ability of scientists to transfer the nucleus of a cell from one human egg cell to another was considered an important achievement, and results of the study were recently published in the online edition of Nature. In particular,...

European Union Approves New Gene Therapy Drug
2012-11-02 13:12:54

Lee Rannals for redOrbit.com — Your Universe Online A drug that has the ability to correct errors in a genetic code has been approved for the first time ever in Europe. The European Commission has given Glybera authorization to sell the drug next summer for treating an ultra rare genetic disease. The small Dutch biotech company's drug will cost around $1.6 million per patient, a new record price for medicine. The drug is a gene therapy for a rare disease that leaves people...

2012-10-09 22:11:54

International study with researchers at The Neuro reveals links with other neurodegenerative diseases Scientists at the Montreal Neurological Institute and Hospital — The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders. Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative...

Zebrafish Used In Autism Research
2012-06-20 06:10:52

Connie K. Ho for redOrbit.com Apes and humans are thought to be intertwined in evolutionary theory, but how about fish and humans? A new study utilized zebrafish in a study regarding human brain disorders. In particular, Massachusetts Institute of Technology (MIT) researchers recently revealed that they took a fresh approach to understanding the roles of genes linked to autism and demonstrated how zebrafish could be utilized in examining the genes that contribute to human brain disorders....

2012-05-08 09:50:39

Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons. "I thought if we could obtain even a couple of relatively secure diagnoses out of the 12 patients, that would prove the value of deploying sequencing approaches systematically in patients with unknown but apparently genetic conditions," said David Goldstein, Ph.D.,...

2012-04-25 20:13:40

A new study, published by Cell Press in the April 26 issue of the journal Neuron, discovers several genes associated with autism and finds evidence for a shared genetic mechanism underlying autism and fragile X syndrome, the most common genetic cause of intellectual disability. It is well established that genetic variation caused by mutation can lead to autism spectrum disorders, and research has repeatedly implicated "de novo" (new) mutations, those that show up for the first time in...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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